X-Linked Dominant Hypophosphatemic Rickets

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.

**Synonyms:** - Hereditary 1,25(OH)2D-resistant Rickets - Hypophosphatemic Vitamin D-resistant Rickets - Vitamin D-resistant Rickets - X-Linked Hypophosphatemia - X-linked Dominant Hypophosphatemic Rickets - X-linked Hypophosphatemic Rickets